K44E (p.Lys44Glu) variant of SDHC (Q99643)
K44E (p.Lys44Glu) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- rs2102307825
- ClinGen CA343361123
- ClinVar RCV002043605
- ClinVar RCV005724737
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.49
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.14
- SIFT 0.09
- EVE 0.77
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)